| Gene Symbol | PPOX |
| Entrez Gene ID | 5498 |
| Full Name | protoporphyrinogen oxidase |
| Synonyms | PPO,V290M,VP |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. |
| Disorder MIM: | |
| Disorder Html: | Porphyria variegata, 176200 (3) |









































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